ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1317+19C>T

gnomAD frequency: 0.00003  dbSNP: rs368215460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611221 SCV000718589 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002063169 SCV002452291 likely benign Pyridoxine-dependent epilepsy 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063169 SCV004050195 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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